chrX:123184153:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:122,318,006-122,624,766 |
| hg38 | chrX:123,184,153-123,490,915 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Decreased Libido | NA | BeFree | Detail | |
| 0.003 | Mental Depression | NA | BeFree,GAD | Detail | |
| <0.001 | depressive disorder | NA | BeFree | Detail | |
| <0.001 | encephalitis | NA | BeFree | Detail | |
| 0.001 | epilepsy | NA | BeFree | Detail | |
| 0.003 | Epilepsy, Temporal Lobe | NA | LHGDN | Detail | |
| 0.003 | leukemia | NA | BeFree,LHGDN | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.001 | Mental Retardation | Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B,... | BeFree | 25956375 | Detail |
| <0.001 | obsessive-compulsive disorder | NA | BeFree | Detail | |
| <0.001 | osteochondritis dissecans | NA | BeFree | Detail | |
| 0.120 | Psychosexual Disorders | NA | CTD_human | Detail | |
| 0.008 | schizophrenia | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Seizures | NA | BeFree | Detail | |
| <0.001 | organic sexual dysfunction | NA | BeFree | Detail | |
| <0.001 | Stress, Psychological | NA | BeFree | Detail | |
| 0.002 | Weight Gain | NA | GAD | Detail | |
| 0.003 | Migraine Disorders | NA | BeFree,GAD | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | anorexia nervosa | Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... | BeFree | 23337130 | Detail |
| <0.001 | obsessive-compulsive disorder | Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... | BeFree | 23337130 | Detail |
| <0.001 | osteochondritis dissecans | Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... | BeFree | 23337130 | Detail |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Rasmussen Syndrome | NA | BeFree | Detail | |
| <0.001 | sexual dysfunction | NA | BeFree | Detail | |
| <0.001 | mass lesion | NA | BeFree | Detail | |
| <0.001 | Drug Resistant Epilepsy | NA | BeFree | Detail | |
| <0.001 | Mental Retardation, X-Linked | NA | BeFree | Detail | |
| 0.120 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CTD_human | Detail | |
| 0.002 | Weight Gain Adverse Event | NA | GAD | Detail | |
| <0.001 | intellectual disability | Virtually all α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor muta... | BeFree | 25904555 | Detail |
| 0.003 | Alzheimer's disease | NA | LHGDN | Detail | |
| 0.003 | amyotrophic lateral sclerosis | NA | LHGDN | Detail | |
| <0.001 | anorexia nervosa | NA | BeFree | Detail | |
| 0.002 | autistic disorder | NA | GAD | Detail | |
| <0.001 | bipolar disorder | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B, and GRIA3) in the d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... | DisGeNET | Detail |
| Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... | DisGeNET | Detail |
| Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Virtually all α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor mutations, most of which... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1074815 dbSNP
- Genome
- hg38
- Position
- chrX:123,184,153-123,490,915
- Variant Type
- snv
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